Allele Registry

Canonical Allele Identifier: PA2828413278

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477343

ClinVar RCV:

RCV000562552

RCV001853809

ClinVar Variation:

486673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Lys1062Met	CA045694 NM_001370404.1:c.3185A>T